Linked Data
ClinVar Variation Id:
2239522
ClinVar RCV Id:
RCV002714063
dbSNP Id:
rs2230939
ExAC:
5:176831085 G / C
gnomAD v2:
5-176831085-G-C
gnomAD v3:
5-177404084-G-C
gnomAD v4:
5-177404084-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404084G>C , CM000667.2:g.177404084G>C | GRCh38 |
| NC_000005.9:g.176831085G>C , CM000667.1:g.176831085G>C | GRCh37 |
| NC_000005.8:g.176763691G>C | NCBI36 |
| NG_007568.1:g.10493C>G , LRG_145:g.10493C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*691C>G (F12) | ENSP00000512476.1:n.*691C>G | |
| ENST00000696193.1:c.*1412C>G (F12) | ENSP00000512477.1:n.*1412C>G | |
| ENST00000696194.1:c.*615C>G (F12) | ENSP00000512478.1:n.*615C>G | |
| ENST00000696195.1:n.3828C>G (F12) | ||
| ENST00000696200.1:n.1128C>G (F12) | ||
| ENST00000696201.1:c.1025C>G (F12) | ENSP00000512482.1:p.Pro342Arg | |
| ENST00000253496.4:c.1025C>G (F12) MANE Select | ENSP00000253496.3:p.Pro342Arg | |
| ENST00000253496.3:c.1025C>G (F12) | ENSP00000253496.3:p.Pro342Arg | |
| ENST00000502598.5:c.-45+558G>C (GRK6) | ENSP00000422873.1:n.-45+558G>C | |
| ENST00000502854.5:n.284C>G (F12) | ||
| ENST00000503736.1:n.397C>G (F12) | ||
| ENST00000510358.5:n.389C>G (F12) | ||
| NM_000505.3:c.1025C>G , LRG_145t1:c.1025C>G (F12) | NP_000496.2:p.Pro342Arg | |
| XM_011534461.1:c.1025C>G (F12) | XP_011532763.1:p.Pro342Arg | |
| XM_011534462.1:c.689C>G (F12) | XP_011532764.1:p.Pro230Arg | |
| XM_011534462.2:c.689C>G (F12) | XP_011532764.1:p.Pro230Arg | |
| XM_017009773.2:c.1416+7010G>C (SLC34A1) | XP_016865262.1:n.1416+7010G>C | |
| NM_000505.4:c.1025C>G (F12) MANE Select | NP_000496.2:p.Pro342Arg |